High frequency of copy number imbalances in Rubinstein–Taybi

CNV profiles of Chinese pediatric patients with developmental disorders - ScienceDirect

Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review, Orphanet Journal of Rare Diseases

Contemplating effects of genomic structural variation

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Genes, Free Full-Text

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire